| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| Y | g.7070786C>A | CA519497532 | TBL1Y | c.657C>A (p.Leu219=) c.699C>A (p.Leu233=) | |
| Y | g.7070786C= | CA2469914972 | TBL1Y | c.657C= (p.Leu219=) c.699C= (p.Leu233=) | |
| Y | g.7070786C>G | CA519497539 | TBL1Y | c.657C>G (p.Leu219=) c.699C>G (p.Leu233=) | |
| Y | g.7070786C>T | CA519497535 | TBL1Y | c.657C>T (p.Leu219=) c.699C>T (p.Leu233=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070787G>A | CA10572161 | TBL1Y | c.658G>A (p.Val220Met) c.700G>A (p.Val234Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070787G>C | CA414969823 | TBL1Y | c.658G>C (p.Val220Leu) c.700G>C (p.Val234Leu) | |
| Y | g.7070787G= | CA2469914973 | TBL1Y | c.658G= (p.Val220=) c.700G= (p.Val234=) | |
| Y | g.7070787G>T | CA414969822 | TBL1Y | c.658G>T (p.Val220Leu) c.700G>T (p.Val234Leu) | |
| Y | g.7070788T>A | CA414969832 | TBL1Y | c.659T>A (p.Val220Glu) c.701T>A (p.Val234Glu) | |
| Y | g.7070788T>C | CA414969828 | TBL1Y | c.659T>C (p.Val220Ala) c.701T>C (p.Val234Ala) | |
| Y | g.7070788T>G | CA414969830 | TBL1Y | c.659T>G (p.Val220Gly) c.701T>G (p.Val234Gly) | |
| Y | g.7070789G>A | CA519497543 | TBL1Y | c.660G>A (p.Val220=) c.702G>A (p.Val234=) | |
| Y | g.7070789G>C | CA519497545 | TBL1Y | c.660G>C (p.Val220=) c.702G>C (p.Val234=) | |
| Y | g.7070789G>T | CA519497546 | TBL1Y | c.660G>T (p.Val220=) c.702G>T (p.Val234=) | |
| Y | g.7070790T>A | CA414969836 | TBL1Y | c.661T>A (p.Leu221Met) c.703T>A (p.Leu235Met) | |
| Y | g.7070790T>C | CA519497550 | TBL1Y | c.661T>C (p.Leu221=) c.703T>C (p.Leu235=) | |
| Y | g.7070790T>G | CA414969839 | TBL1Y | c.661T>G (p.Leu221Val) c.703T>G (p.Leu235Val) | |
| Y | g.7070791T>A | CA414969844 | TBL1Y | c.662T>A (p.Leu221Ter) c.704T>A (p.Leu235Ter) | |
| Y | g.7070791T>C | CA414969847 | TBL1Y | c.662T>C (p.Leu221Ser) c.704T>C (p.Leu235Ser) | |
| Y | g.7070791T>G | CA414969849 | TBL1Y | c.662T>G (p.Leu221Trp) c.704T>G (p.Leu235Trp) | |
| Y | g.7070792G>A | CA519497554 | TBL1Y | c.663G>A (p.Leu221=) c.705G>A (p.Leu235=) | |
| Y | g.7070792G>C | CA414969853 | TBL1Y | c.663G>C (p.Leu221Phe) c.705G>C (p.Leu235Phe) | |
| Y | g.7070792G>T | CA414969856 | TBL1Y | c.663G>T (p.Leu221Phe) c.705G>T (p.Leu235Phe) | |
| Y | g.7070793A>C | CA519497559 | TBL1Y | c.664A>C (p.Arg222=) c.706A>C (p.Arg236=) | |
| Y | g.7070793A>G | CA414969859 | TBL1Y | c.664A>G (p.Arg222Gly) c.706A>G (p.Arg236Gly) | |
| Y | g.7070793A>T | CA414969861 | TBL1Y | c.664A>T (p.Arg222Ter) c.706A>T (p.Arg236Ter) | |
| Y | g.7070794G>A | CA414969868 | TBL1Y | c.665G>A (p.Arg222Lys) c.707G>A (p.Arg236Lys) | |
| Y | g.7070794G>C | CA414969864 | TBL1Y | c.665G>C (p.Arg222Thr) c.707G>C (p.Arg236Thr) | |
| Y | g.7070794G>T | CA414969866 | TBL1Y | c.665G>T (p.Arg222Ile) c.707G>T (p.Arg236Ile) | |
| Y | g.7070795A= | CA2469914974 | TBL1Y | c.666A= (p.Arg222=) c.708A= (p.Arg236=) | |
| Y | g.7070795A>C | CA414969870 | TBL1Y | c.666A>C (p.Arg222Ser) c.708A>C (p.Arg236Ser) | |
| Y | g.7070795A>G | CA10572162 | TBL1Y | c.666A>G (p.Arg222=) c.708A>G (p.Arg236=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070795A>T | CA414969872 | TBL1Y | c.666A>T (p.Arg222Ser) c.708A>T (p.Arg236Ser) | |
| Y | g.7070796C>A | CA414969873 | TBL1Y | c.667C>A (p.His223Asn) c.709C>A (p.His237Asn) | |
| Y | g.7070796C>G | CA414969874 | TBL1Y | c.667C>G (p.His223Asp) c.709C>G (p.His237Asp) | |
| Y | g.7070796C>T | CA414969875 | TBL1Y | c.667C>T (p.His223Tyr) c.709C>T (p.His237Tyr) | |
| Y | g.7070797A>C | CA414969876 | TBL1Y | c.668A>C (p.His223Pro) c.710A>C (p.His237Pro) | |
| Y | g.7070797A>G | CA414969877 | TBL1Y | c.668A>G (p.His223Arg) c.710A>G (p.His237Arg) | |
| Y | g.7070797A>T | CA414969878 | TBL1Y | c.668A>T (p.His223Leu) c.710A>T (p.His237Leu) | |
| Y | g.7070798T>A | CA414969879 | TBL1Y | c.669T>A (p.His223Gln) c.711T>A (p.His237Gln) | |
| Y | g.7070798T>C | CA519497582 | TBL1Y | c.669T>C (p.His223=) c.711T>C (p.His237=) | |
| Y | g.7070798T>G | CA414969880 | TBL1Y | c.669T>G (p.His223Gln) c.711T>G (p.His237Gln) | |
| Y | g.7070799T>A | CA414969882 | TBL1Y | c.670T>A (p.Cys224Ser) c.712T>A (p.Cys238Ser) | |
| Y | g.7070799T>C | CA414969883 | TBL1Y | c.670T>C (p.Cys224Arg) c.712T>C (p.Cys238Arg) | |
| Y | g.7070799T>G | CA414969881 | TBL1Y | c.670T>G (p.Cys224Gly) c.712T>G (p.Cys238Gly) | |
| Y | g.7070800G>A | CA10572163 | TBL1Y | c.671G>A (p.Cys224Tyr) c.713G>A (p.Cys238Tyr) | dbSNP ExAC gnomAD v2 |
| Y | g.7070800G>C | CA414969885 | TBL1Y | c.671G>C (p.Cys224Ser) c.713G>C (p.Cys238Ser) | |
| Y | g.7070800G= | CA2469914975 | TBL1Y | c.671G= (p.Cys224=) c.713G= (p.Cys238=) | |
| Y | g.7070800G>T | CA414969884 | TBL1Y | c.671G>T (p.Cys224Phe) c.713G>T (p.Cys238Phe) | |
| Y | g.7070801T>A | CA414969886 | TBL1Y | c.672T>A (p.Cys224Ter) c.714T>A (p.Cys238Ter) | |
| Y | g.7070801T>C | CA519497593 | TBL1Y | c.672T>C (p.Cys224=) c.714T>C (p.Cys238=) | |
| Y | g.7070801T>G | CA414969887 | TBL1Y | c.672T>G (p.Cys224Trp) c.714T>G (p.Cys238Trp) | |
| Y | g.7070802A>C | CA414969888 | TBL1Y | c.673A>C (p.Ile225Leu) c.715A>C (p.Ile239Leu) | |
| Y | g.7070802A>G | CA414969889 | TBL1Y | c.673A>G (p.Ile225Val) c.715A>G (p.Ile239Val) | |
| Y | g.7070802A>T | CA414969890 | TBL1Y | c.673A>T (p.Ile225Leu) c.715A>T (p.Ile239Leu) | |
| Y | g.7070803T>A | CA414969891 | TBL1Y | c.674T>A (p.Ile225Lys) c.716T>A (p.Ile239Lys) | |
| Y | g.7070803T>C | CA10572164 | TBL1Y | c.674T>C (p.Ile225Thr) c.716T>C (p.Ile239Thr) | dbSNP ExAC gnomAD v2 |
| Y | g.7070803T>G | CA414969892 | TBL1Y | c.674T>G (p.Ile225Arg) c.716T>G (p.Ile239Arg) | |
| Y | g.7070803T= | CA2469914976 | TBL1Y | c.674T= (p.Ile225=) c.716T= (p.Ile239=) | |
| Y | g.7070804A>C | CA519497605 | TBL1Y | c.675A>C (p.Ile225=) c.717A>C (p.Ile239=) | |
| Y | g.7070804A>G | CA414969893 | TBL1Y | c.675A>G (p.Ile225Met) c.717A>G (p.Ile239Met) | |
| Y | g.7070804A>T | CA519497609 | TBL1Y | c.675A>T (p.Ile225=) c.717A>T (p.Ile239=) | |
| Y | g.7070805C>A | CA519497611 | TBL1Y | c.676C>A (p.Arg226=) c.718C>A (p.Arg240=) | |
| Y | g.7070805C= | CA2469914977 | TBL1Y | c.676C= (p.Arg226=) c.718C= (p.Arg240=) | |
| Y | g.7070805C>G | CA414969894 | TBL1Y | c.676C>G (p.Arg226Gly) c.718C>G (p.Arg240Gly) | |
| Y | g.7070805C>T | CA414969895 | TBL1Y | c.676C>T (p.Arg226Ter) c.718C>T (p.Arg240Ter) | dbSNP gnomAD v2 |
| Y | g.7070806G>A | CA414969896 | TBL1Y | c.677G>A (p.Arg226Gln) c.719G>A (p.Arg240Gln) | dbSNP gnomAD v2 |
| Y | g.7070806G>C | CA414969898 | TBL1Y | c.677G>C (p.Arg226Pro) c.719G>C (p.Arg240Pro) | |
| Y | g.7070806G= | CA2469914978 | TBL1Y | c.677G= (p.Arg226=) c.719G= (p.Arg240=) | |
| Y | g.7070806G>T | CA414969897 | TBL1Y | c.677G>T (p.Arg226Leu) c.719G>T (p.Arg240Leu) | |
| Y | g.7070807A>C | CA519497620 | TBL1Y | c.678A>C (p.Arg226=) c.720A>C (p.Arg240=) | |
| Y | g.7070807A>G | CA519497622 | TBL1Y | c.678A>G (p.Arg226=) c.720A>G (p.Arg240=) | |
| Y | g.7070807A>T | CA519497623 | TBL1Y | c.678A>T (p.Arg226=) c.720A>T (p.Arg240=) | |
| Y | g.7070808G>A | CA414969899 | TBL1Y | c.679G>A (p.Glu227Lys) c.721G>A (p.Glu241Lys) | |
| Y | g.7070808G>C | CA414969900 | TBL1Y | c.679G>C (p.Glu227Gln) c.721G>C (p.Glu241Gln) | |
| Y | g.7070808G>T | CA414969901 | TBL1Y | c.679G>T (p.Glu227Ter) c.721G>T (p.Glu241Ter) | dbSNP |
| Y | g.7070809A>C | CA414969902 | TBL1Y | c.680A>C (p.Glu227Ala) c.722A>C (p.Glu241Ala) | |
| Y | g.7070809A>G | CA414969903 | TBL1Y | c.680A>G (p.Glu227Gly) c.722A>G (p.Glu241Gly) | |
| Y | g.7070809A>T | CA414969904 | TBL1Y | c.680A>T (p.Glu227Val) c.722A>T (p.Glu241Val) | |
| Y | g.7070810A= | CA2469914979 | TBL1Y | c.681A= (p.Glu227=) c.723A= (p.Glu241=) | |
| Y | g.7070810A>C | CA414969905 | TBL1Y | c.681A>C (p.Glu227Asp) c.723A>C (p.Glu241Asp) | COSMIC |
| Y | g.7070810A>G | CA519497630 | TBL1Y | c.681A>G (p.Glu227=) c.723A>G (p.Glu241=) | |
| Y | g.7070810A>T | CA414969906 | TBL1Y | c.681A>T (p.Glu227Asp) c.723A>T (p.Glu241Asp) | |
| Y | g.7070811G>A | CA414969909 | TBL1Y | c.682G>A (p.Gly228Arg) c.724G>A (p.Gly242Arg) | |
| Y | g.7070811G>C | CA414969908 | TBL1Y | c.682G>C (p.Gly228Arg) c.724G>C (p.Gly242Arg) | |
| Y | g.7070811G>T | CA414969907 | TBL1Y | c.682G>T (p.Gly228Trp) c.724G>T (p.Gly242Trp) | |
| Y | g.7070816dup | CA10572165 | TBL1Y | c.687dup (p.His230AlafsTer6) c.729dup (p.His244AlafsTer6) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070812G>A | CA414969910 | TBL1Y | c.683G>A (p.Gly228Glu) c.725G>A (p.Gly242Glu) | |
| Y | g.7070812G>C | CA414969911 | TBL1Y | c.683G>C (p.Gly228Ala) c.725G>C (p.Gly242Ala) | |
| Y | g.7070812G>T | CA414969912 | TBL1Y | c.683G>T (p.Gly228Val) c.725G>T (p.Gly242Val) | |
| Y | g.7070813G>A | CA519497636 | TBL1Y | c.684G>A (p.Gly228=) c.726G>A (p.Gly242=) | |
| Y | g.7070813G>C | CA519497637 | TBL1Y | c.684G>C (p.Gly228=) c.726G>C (p.Gly242=) | |
| Y | g.7070813G>T | CA519497638 | TBL1Y | c.684G>T (p.Gly228=) c.726G>T (p.Gly242=) | |
| Y | g.7070814G>A | CA10572166 | TBL1Y | c.685G>A (p.Gly229Arg) c.727G>A (p.Gly243Arg) | dbSNP ExAC gnomAD v2 |
| Y | g.7070814G>C | CA414969913 | TBL1Y | c.685G>C (p.Gly229Arg) c.727G>C (p.Gly243Arg) | |
| Y | g.7070814G= | CA2469914980 | TBL1Y | c.685G= (p.Gly229=) c.727G= (p.Gly243=) | |
| Y | g.7070814G>T | CA414969914 | TBL1Y | c.685G>T (p.Gly229Trp) c.727G>T (p.Gly243Trp) | |
| Y | g.7070815G>A | CA414969915 | TBL1Y | c.686G>A (p.Gly229Glu) c.728G>A (p.Gly243Glu) | dbSNP gnomAD v2 |
| Y | g.7070815G>C | CA414969916 | TBL1Y | c.686G>C (p.Gly229Ala) c.728G>C (p.Gly243Ala) | |
| Y | g.7070815G= | CA2469914981 | TBL1Y | c.686G= (p.Gly229=) c.728G= (p.Gly243=) | |
| Y | g.7070815G>T | CA414969917 | TBL1Y | c.686G>T (p.Gly229Val) c.728G>T (p.Gly243Val) | |
| Y | g.7070816G>A | CA519497648 | TBL1Y | c.687G>A (p.Gly229=) c.729G>A (p.Gly243=) | |
| Y | g.7070816G>C | CA519497649 | TBL1Y | c.687G>C (p.Gly229=) c.729G>C (p.Gly243=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070816G= | CA2469914982 | TBL1Y | c.687G= (p.Gly229=) c.729G= (p.Gly243=) | |
| Y | g.7070816G>T | CA519497651 | TBL1Y | c.687G>T (p.Gly229=) c.729G>T (p.Gly243=) | |
| Y | g.7070817C>A | CA414969918 | TBL1Y | c.688C>A (p.His230Asn) c.730C>A (p.His244Asn) | |
| Y | g.7070817C= | CA2469914983 | TBL1Y | c.688C= (p.His230=) c.730C= (p.His244=) | |
| Y | g.7070817C>G | CA414969919 | TBL1Y | c.688C>G (p.His230Asp) c.730C>G (p.His244Asp) | |
| Y | g.7070817C>T | CA414969920 | TBL1Y | c.688C>T (p.His230Tyr) c.730C>T (p.His244Tyr) | dbSNP gnomAD v2 |
| Y | g.7070818A>C | CA414969921 | TBL1Y | c.689A>C (p.His230Pro) c.731A>C (p.His244Pro) | |
| Y | g.7070818A>G | CA414969923 | TBL1Y | c.689A>G (p.His230Arg) c.731A>G (p.His244Arg) | |
| Y | g.7070818A>T | CA414969922 | TBL1Y | c.689A>T (p.His230Leu) c.731A>T (p.His244Leu) | |
| Y | g.7070819C>A | CA414969924 | TBL1Y | c.690C>A (p.His230Gln) c.732C>A (p.His244Gln) | |
| Y | g.7070819C= | CA2469914984 | TBL1Y | c.690C= (p.His230=) c.732C= (p.His244=) | |
| Y | g.7070819C>G | CA414969925 | TBL1Y | c.690C>G (p.His230Gln) c.732C>G (p.His244Gln) | |
| Y | g.7070819C>T | CA519497661 | TBL1Y | c.690C>T (p.His230=) c.732C>T (p.His244=) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.7070820G>A | CA414969926 | TBL1Y | c.691G>A (p.Asp231Asn) c.733G>A (p.Asp245Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070820G>C | CA414969927 | TBL1Y | c.691G>C (p.Asp231His) c.733G>C (p.Asp245His) | |
| Y | g.7070820G= | CA2469914985 | TBL1Y | c.691G= (p.Asp231=) c.733G= (p.Asp245=) | |
| Y | g.7070820G>T | CA414969928 | TBL1Y | c.691G>T (p.Asp231Tyr) c.733G>T (p.Asp245Tyr) | |
| Y | g.7070821A>C | CA414969929 | TBL1Y | c.692A>C (p.Asp231Ala) c.734A>C (p.Asp245Ala) | |
| Y | g.7070821A>G | CA414969930 | TBL1Y | c.692A>G (p.Asp231Gly) c.734A>G (p.Asp245Gly) | |
| Y | g.7070821A>T | CA414969931 | TBL1Y | c.692A>T (p.Asp231Val) c.734A>T (p.Asp245Val) | |
| Y | g.7070822C>A | CA414969932 | TBL1Y | c.693C>A (p.Asp231Glu) c.735C>A (p.Asp245Glu) | |
| Y | g.7070822C>G | CA414969933 | TBL1Y | c.693C>G (p.Asp231Glu) c.735C>G (p.Asp245Glu) | |
| Y | g.7070822C>T | CA519497671 | TBL1Y | c.693C>T (p.Asp231=) c.735C>T (p.Asp245=) | |
| Y | g.7070823G>A | CA337560238 | TBL1Y | c.694G>A (p.Val232Ile) c.736G>A (p.Val246Ile) | dbSNP |
| Y | g.7070823G>C | CA414969935 | TBL1Y | c.694G>C (p.Val232Leu) c.736G>C (p.Val246Leu) | |
| Y | g.7070823G= | CA2469914986 | TBL1Y | c.694G= (p.Val232=) c.736G= (p.Val246=) | |
| Y | g.7070823G>T | CA414969934 | TBL1Y | c.694G>T (p.Val232Phe) c.736G>T (p.Val246Phe) | |
| Y | g.7070824T>A | CA414969938 | TBL1Y | c.695T>A (p.Val232Asp) c.737T>A (p.Val246Asp) | |
| Y | g.7070824T>C | CA414969936 | TBL1Y | c.695T>C (p.Val232Ala) c.737T>C (p.Val246Ala) | |
| Y | g.7070824T>G | CA414969937 | TBL1Y | c.695T>G (p.Val232Gly) c.737T>G (p.Val246Gly) | |
| Y | g.7070825C>A | CA519497678 | TBL1Y | c.696C>A (p.Val232=) c.738C>A (p.Val246=) | |
| Y | g.7070825C>G | CA519497679 | TBL1Y | c.696C>G (p.Val232=) c.738C>G (p.Val246=) | |
| Y | g.7070825C>T | CA519497680 | TBL1Y | c.696C>T (p.Val232=) c.738C>T (p.Val246=) | |
| Y | g.7070826C>A | CA414969939 | TBL1Y | c.697C>A (p.Pro233Thr) c.739C>A (p.Pro247Thr) | |
| Y | g.7070826C>G | CA414969940 | TBL1Y | c.697C>G (p.Pro233Ala) c.739C>G (p.Pro247Ala) | |
| Y | g.7070826C>T | CA414969941 | TBL1Y | c.697C>T (p.Pro233Ser) c.739C>T (p.Pro247Ser) | |
| Y | g.7070827C>A | CA414969942 | TBL1Y | c.698C>A (p.Pro233Gln) c.740C>A (p.Pro247Gln) | |
| Y | g.7070827C>G | CA414969943 | TBL1Y | c.698C>G (p.Pro233Arg) c.740C>G (p.Pro247Arg) | |
| Y | g.7070827C>T | CA414969944 | TBL1Y | c.698C>T (p.Pro233Leu) c.740C>T (p.Pro247Leu) | |
| Y | g.7070828A>C | CA519497686 | TBL1Y | c.699A>C (p.Pro233=) c.741A>C (p.Pro247=) | |
| Y | g.7070828A>G | CA519497690 | TBL1Y | c.699A>G (p.Pro233=) c.741A>G (p.Pro247=) | |
| Y | g.7070828A>T | CA519497692 | TBL1Y | c.699A>T (p.Pro233=) c.741A>T (p.Pro247=) | |
| Y | g.7070829A>C | CA414969945 | TBL1Y | c.700A>C (p.Ser234Arg) c.742A>C (p.Ser248Arg) | |
| Y | g.7070829A>G | CA414969946 | TBL1Y | c.700A>G (p.Ser234Gly) c.742A>G (p.Ser248Gly) | |
| Y | g.7070829A>T | CA414969947 | TBL1Y | c.700A>T (p.Ser234Cys) c.742A>T (p.Ser248Cys) | |
| Y | g.7070830G>A | CA414969950 | TBL1Y | c.701G>A (p.Ser234Asn) c.743G>A (p.Ser248Asn) | |
| Y | g.7070830G>C | CA414969948 | TBL1Y | c.701G>C (p.Ser234Thr) c.743G>C (p.Ser248Thr) | |
| Y | g.7070830G>T | CA414969949 | TBL1Y | c.701G>T (p.Ser234Ile) c.743G>T (p.Ser248Ile) | |
| Y | g.7070831T>A | CA414969951 | TBL1Y | c.702T>A (p.Ser234Arg) c.744T>A (p.Ser248Arg) | |
| Y | g.7070831T>C | CA519497701 | TBL1Y | c.702T>C (p.Ser234=) c.744T>C (p.Ser248=) | |
| Y | g.7070831T>G | CA414969952 | TBL1Y | c.702T>G (p.Ser234Arg) c.744T>G (p.Ser248Arg) | |
| Y | g.7070832A>C | CA414969953 | TBL1Y | c.703A>C (p.Asn235His) c.745A>C (p.Asn249His) | |
| Y | g.7070832A>G | CA414969954 | TBL1Y | c.703A>G (p.Asn235Asp) c.745A>G (p.Asn249Asp) | |
| Y | g.7070832A>T | CA414969955 | TBL1Y | c.703A>T (p.Asn235Tyr) c.745A>T (p.Asn249Tyr) | |
| Y | g.7070833A>C | CA414969956 | TBL1Y | c.704A>C (p.Asn235Thr) c.746A>C (p.Asn249Thr) | |
| Y | g.7070833A>G | CA414969957 | TBL1Y | c.704A>G (p.Asn235Ser) c.746A>G (p.Asn249Ser) | |
| Y | g.7070833A>T | CA414969958 | TBL1Y | c.704A>T (p.Asn235Ile) c.746A>T (p.Asn249Ile) | |
| Y | g.7070834_7070835dup | CA2739191618 | TBL1Y | c.705_706dup (p.Lys236IlefsTer?) c.747_748dup (p.Lys250IlefsTer?) | dbSNP |
| Y | g.7070834T>A | CA414969959 | TBL1Y | c.705T>A (p.Asn235Lys) c.747T>A (p.Asn249Lys) | |
| Y | g.7070834T>C | CA519497716 | TBL1Y | c.705T>C (p.Asn235=) c.747T>C (p.Asn249=) | |
| Y | g.7070834T>G | CA414969960 | TBL1Y | c.705T>G (p.Asn235Lys) c.747T>G (p.Asn249Lys) | |
| Y | g.7070835A>C | CA414969962 | TBL1Y | c.706A>C (p.Lys236Gln) c.748A>C (p.Lys250Gln) | |
| Y | g.7070835A>G | CA414969963 | TBL1Y | c.706A>G (p.Lys236Glu) c.748A>G (p.Lys250Glu) | |
| Y | g.7070835A>T | CA414969961 | TBL1Y | c.706A>T (p.Lys236Ter) c.748A>T (p.Lys250Ter) | |
| Y | g.7070836A>C | CA414969964 | TBL1Y | c.707A>C (p.Lys236Thr) c.749A>C (p.Lys250Thr) | |
| Y | g.7070836A>G | CA414969965 | TBL1Y | c.707A>G (p.Lys236Arg) c.749A>G (p.Lys250Arg) | |
| Y | g.7070836A>T | CA414969966 | TBL1Y | c.707A>T (p.Lys236Ile) c.749A>T (p.Lys250Ile) | |
| Y | g.7070837A>C | CA414969967 | TBL1Y | c.708A>C (p.Lys236Asn) c.750A>C (p.Lys250Asn) | |
| Y | g.7070837A>G | CA519497723 | TBL1Y | c.708A>G (p.Lys236=) c.750A>G (p.Lys250=) | |
| Y | g.7070837A>T | CA414969968 | TBL1Y | c.708A>T (p.Lys236Asn) c.750A>T (p.Lys250Asn) | |
| Y | g.7070838G>A | CA414969971 | TBL1Y | c.709G>A (p.Asp237Asn) c.751G>A (p.Asp251Asn) | |
| Y | g.7070838G>C | CA414969969 | TBL1Y | c.709G>C (p.Asp237His) c.751G>C (p.Asp251His) | |
| Y | g.7070838G>T | CA414969970 | TBL1Y | c.709G>T (p.Asp237Tyr) c.751G>T (p.Asp251Tyr) | |
| Y | g.7070839A>C | CA414969972 | TBL1Y | c.710A>C (p.Asp237Ala) c.752A>C (p.Asp251Ala) | |
| Y | g.7070839A>G | CA414969973 | TBL1Y | c.710A>G (p.Asp237Gly) c.752A>G (p.Asp251Gly) | |
| Y | g.7070839A>T | CA414969974 | TBL1Y | c.710A>T (p.Asp237Val) c.752A>T (p.Asp251Val) | |
| Y | g.7070840T>A | CA414969975 | TBL1Y | c.711T>A (p.Asp237Glu) c.753T>A (p.Asp251Glu) | |
| Y | g.7070840T>C | CA519497731 | TBL1Y | c.711T>C (p.Asp237=) c.753T>C (p.Asp251=) | dbSNP gnomAD v2 |
| Y | g.7070840T>G | CA414969976 | TBL1Y | c.711T>G (p.Asp237Glu) c.753T>G (p.Asp251Glu) | |
| Y | g.7070840T= | CA2469914987 | TBL1Y | c.711T= (p.Asp237=) c.753T= (p.Asp251=) | |
| Y | g.7070841G>A | CA414969977 | TBL1Y | c.712G>A (p.Val238Ile) c.754G>A (p.Val252Ile) | |
| Y | g.7070841G>C | CA414969979 | TBL1Y | c.712G>C (p.Val238Leu) c.754G>C (p.Val252Leu) | |
| Y | g.7070841G>T | CA414969978 | TBL1Y | c.712G>T (p.Val238Phe) c.754G>T (p.Val252Phe) | |
| Y | g.7070842T>A | CA414969980 | TBL1Y | c.713T>A (p.Val238Asp) c.755T>A (p.Val252Asp) | |
| Y | g.7070842T>C | CA414969981 | TBL1Y | c.713T>C (p.Val238Ala) c.755T>C (p.Val252Ala) | |
| Y | g.7070842T>G | CA414969982 | TBL1Y | c.713T>G (p.Val238Gly) c.755T>G (p.Val252Gly) | |
| Y | g.7070843C>A | CA519497742 | TBL1Y | c.714C>A (p.Val238=) c.756C>A (p.Val252=) | |
| Y | g.7070843C= | CA2469914988 | TBL1Y | c.714C= (p.Val238=) c.756C= (p.Val252=) | |
| Y | g.7070843C>G | CA519497744 | TBL1Y | c.714C>G (p.Val238=) c.756C>G (p.Val252=) | |
| Y | g.7070843C>T | CA519497746 | TBL1Y | c.714C>T (p.Val238=) c.756C>T (p.Val252=) | dbSNP gnomAD v2 |
| Y | g.7070844A>C | CA414969983 | TBL1Y | c.715A>C (p.Thr239Pro) c.757A>C (p.Thr253Pro) | |
| Y | g.7070844A>G | CA414969984 | TBL1Y | c.715A>G (p.Thr239Ala) c.757A>G (p.Thr253Ala) | |
| Y | g.7070844A>T | CA414969985 | TBL1Y | c.715A>T (p.Thr239Ser) c.757A>T (p.Thr253Ser) | |
| Y | g.7070845C>A | CA414969986 | TBL1Y | c.716C>A (p.Thr239Asn) c.758C>A (p.Thr253Asn) | |
| Y | g.7070845C>G | CA414969987 | TBL1Y | c.716C>G (p.Thr239Ser) c.758C>G (p.Thr253Ser) | |
| Y | g.7070845C>T | CA414969988 | TBL1Y | c.716C>T (p.Thr239Ile) c.758C>T (p.Thr253Ile) | |
| Y | g.7070846C>A | CA519497751 | TBL1Y | c.717C>A (p.Thr239=) c.759C>A (p.Thr253=) | |
| Y | g.7070846C>G | CA519497753 | TBL1Y | c.717C>G (p.Thr239=) c.759C>G (p.Thr253=) | |
| Y | g.7070846C>T | CA519497755 | TBL1Y | c.717C>T (p.Thr239=) c.759C>T (p.Thr253=) | |
| Y | g.7070847T>A | CA414969989 | TBL1Y | c.718T>A (p.Ser240Thr) c.760T>A (p.Ser254Thr) | |
| Y | g.7070847T>C | CA414969990 | TBL1Y | c.718T>C (p.Ser240Pro) c.760T>C (p.Ser254Pro) | |
| Y | g.7070847T>G | CA414969991 | TBL1Y | c.718T>G (p.Ser240Ala) c.760T>G (p.Ser254Ala) | |
| Y | g.7070848C>A | CA414969993 | TBL1Y | c.719C>A (p.Ser240Ter) c.761C>A (p.Ser254Ter) | |
| Y | g.7070848C>G | CA414969994 | TBL1Y | c.719C>G (p.Ser240Ter) c.761C>G (p.Ser254Ter) | |
| Y | g.7070848C>T | CA414969992 | TBL1Y | c.719C>T (p.Ser240Leu) c.761C>T (p.Ser254Leu) | |
| Y | g.7070849A>C | CA519497760 | TBL1Y | c.720A>C (p.Ser240=) c.762A>C (p.Ser254=) | |
| Y | g.7070849A>G | CA519497762 | TBL1Y | c.720A>G (p.Ser240=) c.762A>G (p.Ser254=) | |
| Y | g.7070849A>T | CA519497763 | TBL1Y | c.720A>T (p.Ser240=) c.762A>T (p.Ser254=) | |
| Y | g.7070850C>A | CA414969996 | TBL1Y | c.721C>A (p.Leu241Met) c.763C>A (p.Leu255Met) | |
| Y | g.7070850C>G | CA414969995 | TBL1Y | c.721C>G (p.Leu241Val) c.763C>G (p.Leu255Val) | |
| Y | g.7070850C>T | CA519497766 | TBL1Y | c.721C>T (p.Leu241=) c.763C>T (p.Leu255=) | |
| Y | g.7070851T>A | CA414969999 | TBL1Y | c.722T>A (p.Leu241Gln) c.764T>A (p.Leu255Gln) | |
| Y | g.7070851T>C | CA414969997 | TBL1Y | c.722T>C (p.Leu241Pro) c.764T>C (p.Leu255Pro) | |
| Y | g.7070851T>G | CA414969998 | TBL1Y | c.722T>G (p.Leu241Arg) c.764T>G (p.Leu255Arg) | |
| Y | g.7070852G>A | CA519497776 | TBL1Y | c.723G>A (p.Leu241=) c.765G>A (p.Leu255=) | |
| Y | g.7070852G>C | CA519497782 | TBL1Y | c.723G>C (p.Leu241=) c.765G>C (p.Leu255=) | |
| Y | g.7070852G>T | CA519497780 | TBL1Y | c.723G>T (p.Leu241=) c.765G>T (p.Leu255=) | |
| Y | g.7070853G>A | CA414970000 | TBL1Y | c.724G>A (p.Asp242Asn) c.766G>A (p.Asp256Asn) | |
| Y | g.7070853G>C | CA414970001 | TBL1Y | c.724G>C (p.Asp242His) c.766G>C (p.Asp256His) | |
| Y | g.7070853G>T | CA414970002 | TBL1Y | c.724G>T (p.Asp242Tyr) c.766G>T (p.Asp256Tyr) | |
| Y | g.7070854A>C | CA414970003 | TBL1Y | c.725A>C (p.Asp242Ala) c.767A>C (p.Asp256Ala) | |
| Y | g.7070854A>G | CA414970004 | TBL1Y | c.725A>G (p.Asp242Gly) c.767A>G (p.Asp256Gly) | |
| Y | g.7070854A>T | CA414970005 | TBL1Y | c.725A>T (p.Asp242Val) c.767A>T (p.Asp256Val) | |
| Y | g.7070855C>A | CA414970006 | TBL1Y | c.726C>A (p.Asp242Glu) c.768C>A (p.Asp256Glu) | |
| Y | g.7070855C>G | CA414970007 | TBL1Y | c.726C>G (p.Asp242Glu) c.768C>G (p.Asp256Glu) | |
| Y | g.7070855C>T | CA519497790 | TBL1Y | c.726C>T (p.Asp242=) c.768C>T (p.Asp256=) | |
| Y | g.7070856T>A | CA414970008 | TBL1Y | c.727T>A (p.Trp243Arg) c.769T>A (p.Trp257Arg) | |
| Y | g.7070856T>C | CA414970009 | TBL1Y | c.727T>C (p.Trp243Arg) c.769T>C (p.Trp257Arg) | |
| Y | g.7070856T>G | CA414970010 | TBL1Y | c.727T>G (p.Trp243Gly) c.769T>G (p.Trp257Gly) | |
| Y | g.7070857G>A | CA414970013 | TBL1Y | c.728G>A (p.Trp243Ter) c.770G>A (p.Trp257Ter) | |
| Y | g.7070857G>C | CA414970011 | TBL1Y | c.728G>C (p.Trp243Ser) c.770G>C (p.Trp257Ser) | |
| Y | g.7070857G>T | CA414970012 | TBL1Y | c.728G>T (p.Trp243Leu) c.770G>T (p.Trp257Leu) | |
| Y | g.7070858G>A | CA414970014 | TBL1Y | c.729G>A (p.Trp243Ter) c.771G>A (p.Trp257Ter) | |
| Y | g.7070858G>C | CA414970015 | TBL1Y | c.729G>C (p.Trp243Cys) c.771G>C (p.Trp257Cys) | |
| Y | g.7070858G>T | CA414970016 | TBL1Y | c.729G>T (p.Trp243Cys) c.771G>T (p.Trp257Cys) | |
| Y | g.7070859A>C | CA414970017 | TBL1Y | c.730A>C (p.Asn244His) c.772A>C (p.Asn258His) | |
| Y | g.7070859A>G | CA414970018 | TBL1Y | c.730A>G (p.Asn244Asp) c.772A>G (p.Asn258Asp) | |
| Y | g.7070859A>T | CA414970019 | TBL1Y | c.730A>T (p.Asn244Tyr) c.772A>T (p.Asn258Tyr) | |
| Y | g.7070860A>C | CA414970020 | TBL1Y | c.731A>C (p.Asn244Thr) c.773A>C (p.Asn258Thr) | |
| Y | g.7070860A>G | CA414970021 | TBL1Y | c.731A>G (p.Asn244Ser) c.773A>G (p.Asn258Ser) | |
| Y | g.7070860A>T | CA414970022 | TBL1Y | c.731A>T (p.Asn244Ile) c.773A>T (p.Asn258Ile) | |
| Y | g.7070861C>A | CA414970023 | TBL1Y | c.732C>A (p.Asn244Lys) c.774C>A (p.Asn258Lys) | |
| Y | g.7070861C= | CA2469914989 | TBL1Y | c.732C= (p.Asn244=) c.774C= (p.Asn258=) | |
| Y | g.7070861C>G | CA414970024 | TBL1Y | c.732C>G (p.Asn244Lys) c.774C>G (p.Asn258Lys) | |
| Y | g.7070861C>T | CA519497815 | TBL1Y | c.732C>T (p.Asn244=) c.774C>T (p.Asn258=) | dbSNP gnomAD v3 gnomAD v4 |
| Y | g.7070862G>A | CA414970025 | TBL1Y | c.732+1G>A (n.732+1G>A) c.774+1G>A (n.774+1G>A) | dbSNP gnomAD v2 COSMIC |
| Y | g.7070862G>C | CA414970027 | TBL1Y | c.732+1G>C (n.732+1G>C) c.774+1G>C (n.774+1G>C) | |
| Y | g.7070862G= | CA2469914990 | TBL1Y | c.732+1G= (n.732+1G=) c.774+1G= (n.774+1G=) | |
| Y | g.7070862G>T | CA414970026 | TBL1Y | c.732+1G>T (n.732+1G>T) c.774+1G>T (n.774+1G>T) | |
| Y | g.7070863T>A | CA414970028 | TBL1Y | c.732+2T>A (n.732+2T>A) c.774+2T>A (n.774+2T>A) | |
| Y | g.7070863T>C | CA414970029 | TBL1Y | c.732+2T>C (n.732+2T>C) c.774+2T>C (n.774+2T>C) | |
| Y | g.7070863T>G | CA10572167 | TBL1Y | c.732+2T>G (n.732+2T>G) c.774+2T>G (n.774+2T>G) | dbSNP ExAC gnomAD v2 |
| Y | g.7070863T= | CA2469914991 | TBL1Y | c.732+2T= (n.732+2T=) c.774+2T= (n.774+2T=) | |
| Y | g.7070868A>C | CA2766274188 | TBL1Y | c.732+7A>C (n.732+7A>C) c.774+7A>C (n.774+7A>C) | |
| Y | g.7070870C>A | CA645286382 | TBL1Y | c.732+9C>A (n.732+9C>A) c.774+9C>A (n.774+9C>A) | dbSNP gnomAD v2 |
| Y | g.7070870C= | CA2469914992 | TBL1Y | c.732+9C= (n.732+9C=) c.774+9C= (n.774+9C=) | |
| Y | g.7070877C>A | CA10572168 | TBL1Y | c.732+16C>A (n.732+16C>A) c.774+16C>A (n.774+16C>A) | dbSNP ExAC gnomAD v2 |
| Y | g.7070877C= | CA2469914993 | TBL1Y | c.732+16C= (n.732+16C=) c.774+16C= (n.774+16C=) | |
| Y | g.7070878C>A | CA2766274190 | TBL1Y | c.732+17C>A (n.732+17C>A) c.774+17C>A (n.774+17C>A) | |
| Y | g.7070878C>T | CA2766274189 | TBL1Y | c.732+17C>T (n.732+17C>T) c.774+17C>T (n.774+17C>T) | |
| Y | g.7070879C>A | CA2579746978 | TBL1Y | c.732+18C>A (n.732+18C>A) c.774+18C>A (n.774+18C>A) | |
| Y | g.7070879C>T | CA2766274191 | TBL1Y | c.732+18C>T (n.732+18C>T) c.774+18C>T (n.774+18C>T) | |
| Y | g.7070881del | CA2766274192 | TBL1Y | c.732+20del (n.732+20del) c.774+20del (n.774+20del) | |
| Y | g.7070882G>C | CA10572169 | TBL1Y | c.732+21G>C (n.732+21G>C) c.774+21G>C (n.774+21G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| Y | g.7070882G= | CA2469914994 | TBL1Y | c.732+21G= (n.732+21G=) c.774+21G= (n.774+21G=) | |
| Y | g.7070885C>T | CA2766274193 | TBL1Y | c.732+24C>T (n.732+24C>T) c.774+24C>T (n.774+24C>T) |